Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome (SHMS)

Alias:
Pacs1-Related Syndrome
Schuurs-Hoeijmakers Syndrome
Autosomal Dominant Intellectual Disability-17
Pacs1 Syndrome
Shms
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome, also known as pacs1-related syndrome, is related to schuurs-hoeijmakers syndrome and pacs1 neurodevelopmental disorder. An important gene associated with Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome is PACS1 (Phosphofurin Acidic Cluster Sorting Protein 1). Affiliated tissues include testes and heart, and related phenotypes are intellectual disability and global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
1
8
10

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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